| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hypomyelination,Brain Stem&SpinalCord (DARS2) | leukoencephalopathy, HBSL | Autosomal Recessive | 2q21.3 | Missense | DARS2 | 766A>C | Met256Leu | Amino Acid Substitution | Taft et al., 2013/2013 |
